Canonical Allele Identifier: CA1630057785
Gene: COL21A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.56346023_56346024delinsAG , CM000668.2:g.56346023_56346024delinsAG GRCh38
NC_000006.11:g.56210821_56210822delinsAG , CM000668.1:g.56210821_56210822delinsAG GRCh37
NC_000006.10:g.56318780_56318781delinsAG NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000370819.5:c.-39+47947_-39+47948delinsCT ENSP00000359855.1:n.-39+47947_-39+47948delinsCT
XM_011514924.1:c.-39+47947_-39+47948delinsCT XP_011513226.1:n.-39+47947_-39+47948delinsCT
NM_001318752.1:c.-39+47947_-39+47948delinsCT NP_001305681.1:n.-39+47947_-39+47948delinsCT
XM_011514924.2:c.-39+47947_-39+47948delinsCT XP_011513226.1:n.-39+47947_-39+47948delinsCT
NM_001318752.2:c.-39+47947_-39+47948delinsCT NP_001305681.1:n.-39+47947_-39+47948delinsCT
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